Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
Assessing Childhood Stuttering Recovery: Incorporating Self-Identification and Caregiver/Clinician Reports Through Adolescence. [PDF]
Treleaven S +4 more
europepmc +1 more source
Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova +9 more
wiley +1 more source
Covering Up or Coming Out? The Role of Social Media Engagement and Sexual Self-Identification in Disclosure of Sexual Orientation Among Stigmatized Gay and Bisexual Men. [PDF]
Zhu W, He A.
europepmc +1 more source
The Generational Locus of Multiraciality and Its Implications for Racial Self-Identification
A. Morning, Aliya Saperstein
semanticscholar +1 more source
ABSTRACT Objective Building on our prior Behavioral Risk Factor Surveillance System analysis identifying adults aged 18–39 as the primary driver of the national increase in self‐reported cognitive disability, we examined factors associated with this rise using 2013–2024 U.S. BRFSS data. Methods We analyzed U.S.
Adam de Havenon +9 more
wiley +1 more source
Self-identification of Pelvic Floor Disorder Symptoms Among Latina Women: The Roles of Knowledge, Attitude, Behaviors, Beliefs, and Psychosocial Factors. [PDF]
Rude T +11 more
europepmc +1 more source
Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin +8 more
wiley +1 more source
Informal caregiving following stroke: a qualitative exploration of carer self-identification, care-related language and support experiences. [PDF]
Harcourt B, Brown R, Bowen A.
europepmc +1 more source
Self-Identification of Victimization of Labor Trafficking
M. van Meeteren, Jing Hiah
semanticscholar +1 more source

